ReCognitION aims to map pathways associated with the positive response to Cognitive Behavioural Therapy (CBT) in patients
with Myotonic Dystrophy type 1 (DM1). These pathways can then be consolidated or reinforced by conventional drug therapies
targeting the same pathways. ReCognitION’s molecular screenings are done on samples collected in the successful
OPTIMISTIC trial (WP1). Data from these screenings are plotted on existing knowledge maps summarizing the current
knowledge on DM1 (WP2). Pathways are validated in cell and mouse models available to the consortium (WP3) and new drugs
targeting these pathways will be validated in medium-throughput cellular screens (WP4).
For a more detailed explanation please see the patient leaflet.
Results achieved thus far
Based on the during the OPTIMISTIC study collected blood samples 27 RNA and more than 400 protein expression profiles before and after the therapy were generated. RNA biomarkers associated with the disease causing mutation as well as the response to therapy were identified. Interestingly, the RNA biomarkers associated with both returned towards more normal levels in patients responding well to the therapy. As such, these targets are of high interest for the ongoing research into the discovery of druggable pathways. For more details, please see the associated publication ‘Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood‘ in BMC Medicine.
The analysis of the protein expression profiles are still ongoing. First results are highly promising, showing that similar to the results of the RNA-seq study, protein biomarkers can be identified in peripheral blood that are significantly linked to the disease causing mutation and measures of physical activity. Moreover, a combination of proteins show promising characteristics of a clinically useful, objective molecular biomarker that may be of utility for future clinical trials.
A summary of the results at the end of the project can be found in the final report leaflet.